regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BATF_chr14_75517469_75551992 | 75544792 | ATTTTTTT | A | intron_variant | MODIFIER | HG01981.hp1 HG02074.hp1 HG02155.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200a0001c0001t0001g0226a0001c0001t0001g0237others(4): Show | 7 | 376 | 0.0186 | -7 | c.169 others(24): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BAX_chr19_48949875_48966798 | 48956819 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(87): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(35): Show | 90 | 418 | 0.2153 | -7 | c.369 others(22): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BAZ1A_chr14_34747731_34880360 | 34759171 | GTTTTTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(14): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0008a0001c0003t0005others(1): Show | a0001c0002t0002g0136a0001c0002t0008g0137a0001c0003t0005g0004others(14): Show | 17 | 380 | 0.0447 | -7 | c.424 others(24): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34819160 | AAAAAAAG | A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0023others(9): Show | 12 | 380 | 0.0316 | -7 | c.536 others(24): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34877239 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0006others(2): Show | a0001c0001t0001a0001c0004t0004a0002c0006t0002others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0039others(19): Show | 22 | 380 | 0.0579 | -7 | c.-21 others(18): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1880 | chr14 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73440071 | GAGTGAGA | G | downstream_gene_variant | MODIFIER | HG01361.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185a0001c0001t0003g0186 | 2 | 200 | 0.0100 | -7 | c.*16 others(18): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 334 | chr7 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159454714 | AACAATGC | A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0019 | a0001c0001a0002c0002a0019c0017 | a0001c0001t0001a0002c0002t0001a0019c0017t0001 | a0001c0001t0001g0104a0002c0002t0001g0048a0002c0002t0001g0050others(3): Show | 6 | 216 | 0.0278 | -7 | c.146 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 3/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159519210 | CTTTTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG02622.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0033a0001c0001t0001g0102a0001c0001t0001g0117others(2): Show | 5 | 216 | 0.0232 | -7 | c.-3+ others(24): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159555675 | GTATAAGA | G | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp1 HG02896.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0009 | a0001c0001t0001a0002c0002t0001a0004c0009t0001 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0104others(3): Show | 6 | 216 | 0.0278 | -7 | c.-3+ others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47215975 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0058others(25): Show | 53 | 412 | 0.1286 | -7 | c.*58 others(18): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 4848 | chr19 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480406 | GTATTTTT | G | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0003 | a0001c0001t0001g0012a0001c0001t0001g0119a0001c0001t0001g0131others(4): Show | 9 | 398 | 0.0226 | -7 | c.*43 others(18): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 3978 | chr16 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72702802 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278a0001c0001t0001g0279a0001c0001t0001g0280others(4): Show | 7 | 398 | 0.0176 | -7 | c.77- others(22): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725767 | CCCTTCCT | C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006a0001c0003t0001g0008a0001c0003t0001g0009others(3): Show | 6 | 398 | 0.0151 | -7 | c.587 others(24): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725931 | TCCCCTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(176): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0292others(174): Show | 179 | 398 | 0.4498 | -7 | c.587 others(24): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS5_chr2_169474494_169511655 | 169480670 | CTTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0020 | a0001c0001t0002g0018a0001c0001t0002g0080a0001c0003t0020g0109others(2): Show | 7 | 398 | 0.0176 | -7 | c.59+ others(22): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33389687 | TAAAAAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG01891.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0001c0026others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(33): Show | 36 | 268 | 0.1343 | -7 | c.211 others(26): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33450870 | TTTTTTTG | T | intron_variant | MODIFIER | HG00423.hp2 HG01981.hp2 HG02015.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0020a0001c0026others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(25): Show | 28 | 268 | 0.1045 | -7 | c.211 others(28): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107584122 | ATATATAT | A | intron_variant | MODIFIER | HG01975.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021 | a0001c0001t0001g0217a0001c0001t0004g0218a0001c0001t0021g0101others(1): Show | 4 | 222 | 0.0180 | -7 | c.-84 others(26): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107645293 | TTAAAAAA | T | intron_variant | MODIFIER | HG01070.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0042 | a0001c0001t0002g0006a0001c0001t0042g0007 | 2 | 222 | 0.0090 | -7 | c.-83 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107687334 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG02809.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0214a0001c0001t0002g0216a0001c0001t0006g0046others(2): Show | 5 | 222 | 0.0225 | -7 | c.-9- others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156646647 | AGGACCCT | A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01106.hp2 others(12): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0220a0001c0001t0001g0222a0001c0001t0002g0167others(12): Show | 15 | 420 | 0.0357 | -7 | c.92- others(20): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156646650 | ACCCTGGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(135): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0073a0001c0001t0001g0086others(89): Show | 138 | 420 | 0.3286 | -7 | c.92- others(20): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107599248 | TATATATA | T | intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347a0001c0001t0002g0348a0001c0001t0002g0349 | 3 | 398 | 0.0075 | -7 | c.481 others(24): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAR1_chr16_75223181_75256624 | 75245964 | CTTTTTTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp2 NA18522.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(1): Show | a0001c0003t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0003t0001g0271a0002c0002t0001g0020a0002c0002t0001g0211others(2): Show | 6 | 392 | 0.0153 | -7 | c.13- others(22): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53960490 | AAAAAAAG | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01978.hp1 others(12): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0017a0002c0002others(5): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0039others(10): Show | a0001c0001t0009g0259a0001c0001t0010g0077a0001c0001t0039g0358others(12): Show | 15 | 364 | 0.0412 | -7 | c.148 others(26): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54065157 | TATCTATC | T | intron_variant | MODIFIER | HG01081.hp1 HG01516.hp1 HG02027.hp1 others(5): Show |
a0001a0006a0013 | a0001c0001a0001c0007a0006c0006others(1): Show | a0001c0001t0004a0001c0007t0015a0006c0006t0018others(2): Show | a0001c0001t0004g0318a0001c0001t0004g0348a0001c0001t0004g0349others(5): Show | 8 | 364 | 0.0220 | -7 | c.-6+ others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60757325 | TAATAATA | T | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG02083.hp1 others(12): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0004t0001g0046a0002c0003t0001g0037a0002c0003t0001g0038others(12): Show | 15 | 74 | 0.2027 | -7 | c.403 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60887306 | CGCACGGT | C | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01256.hp2 others(58): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(13): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0059others(58): Show | 61 | 74 | 0.8243 | -7 | c.662 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61166387 | CTCTCTTT | C | intron_variant | MODIFIER | HG02897.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0004a0001c0008a0002c0003 | a0001c0004t0001a0001c0008t0002a0002c0003t0001 | a0001c0004t0001g0049a0001c0008t0002g0062a0002c0003t0001g0015others(2): Show | 5 | 74 | 0.0676 | -7 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61193757 | CAAAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02818.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0067a0001c0002t0002g0068a0001c0002t0002g0069others(6): Show | 9 | 74 | 0.1216 | -7 | c.242 others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61298815 | TTTATTTA | T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0005t0001others(1): Show | a0001c0002t0001g0059a0001c0004t0001g0046a0002c0005t0001g0073others(2): Show | 5 | 74 | 0.0676 | -7 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24808759 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01070.hp2 others(18): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0006a0001c0001t0015a0001c0001t0054others(8): Show | a0001c0001t0006g0183a0001c0001t0006g0187a0001c0001t0006g0202others(18): Show | 21 | 322 | 0.0652 | -7 | c.*92 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1264 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24951590 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(87): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0218a0001c0001t0001g0235a0001c0001t0001g0236others(87): Show | 90 | 322 | 0.2795 | -7 | c.-26 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165840329 | TAGATAGA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0020others(36): Show | 43 | 304 | 0.1415 | -7 | c.-30 others(18): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2907 | chr3 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80161284 | ATTAATTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0004g0141others(50): Show | 53 | 294 | 0.1803 | -7 | c.344 others(24): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCL11A_chr2_60452194_60558654 | 60507214 | GGAAGGAA | G | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0019a0001c0001t0038others(1): Show | a0001c0001t0003g0170a0001c0001t0019g0012a0001c0001t0038g0069others(1): Show | 4 | 262 | 0.0153 | -7 | c.386 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60521098 | CACTCACA | C | intron_variant | MODIFIER | HG02293.hp2 NA18988.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0123a0001c0001t0003g0147a0001c0001t0005g0226 | 3 | 262 | 0.0115 | -7 | c.385 others(26): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99167909 | TAAAAATA | T | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0003 | a0001c0001t0001g0252a0001c0001t0011g0296a0001c0002t0003g0152 | 3 | 350 | 0.0086 | -7 | c.*62 others(18): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1377 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99243918 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(19): Show | a0001c0001t0002g0016a0001c0001t0002g0055a0001c0001t0002g0061others(40): Show | 44 | 350 | 0.1257 | -7 | c.428 others(26): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99276788 | CTGAGGCA | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02572.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0049 | a0001c0001t0008g0053a0001c0001t0008g0054a0001c0002t0049g0057 | 3 | 350 | 0.0086 | -7 | c.-55 others(18): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 4592 | chr14 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52112811 | GCCCCGGC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(78): Show |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(2): Show | a0002c0002t0002g0010a0002c0002t0002g0011a0002c0002t0002g0017others(44): Show | 81 | 458 | 0.1769 | -7 | c.-92 others(14): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 37 | chr15 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111152782 | AGTTTAAT | A | intron_variant | MODIFIER | HG00639.hp2 HG02109.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0209a0001c0002t0003g0210a0001c0002t0003g0213others(2): Show | 5 | 398 | 0.0126 | -7 | c.498 others(24): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L11_chr2_111115914_111173444 | 111168154 | CTTATGTT | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00609.hp1 others(62): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0019others(16): Show | a0001c0001t0005g0003a0001c0001t0005g0028a0001c0001t0005g0029others(54): Show | 65 | 398 | 0.1633 | -7 | c.*39 others(18): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 4/4 | 3930 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
BCL2L13_chr22_17633757_17735855 | 17646955 | ATTTTTTT | A | intron_variant | MODIFIER | HG00738.hp1 HG02559.hp1 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0017a0001c0001t0021others(2): Show | a0001c0001t0007g0008a0001c0001t0007g0009a0001c0001t0007g0012others(9): Show | 12 | 306 | 0.0392 | -7 | c.-51 others(24): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17656335 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01069.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0046a0002c0003t0001others(1): Show | a0001c0001t0002g0172a0001c0001t0046g0023a0002c0003t0001g0276others(4): Show | 7 | 306 | 0.0229 | -7 | c.121 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L1_chr20_31659458_31727868 | 31683769 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0148a0001c0001t0001g0149others(12): Show | 16 | 186 | 0.0860 | -7 | c.565 others(26): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63261791 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00642.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0168a0001c0001t0001g0182a0001c0001t0002g0029others(19): Show | 22 | 264 | 0.0833 | -7 | c.585 others(26): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63270150 | TTGTTAAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(90): Show | 93 | 264 | 0.3523 | -7 | c.585 others(26): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147566769 | AAAAAAAG | A | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG01109.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0002c0002t0002 | a0001c0001t0002g0002a0001c0001t0002g0021a0001c0001t0002g0268others(3): Show | 11 | 316 | 0.0348 | -7 | c.-47 others(28): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCLAF3_chrX_19907860_19996061 | 19908360 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0056 | 1 | 207 | 0.0048 | -7 | c.*89 others(18): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4499 | chrX | TogoVar |